EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy)
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A new autosomal recessive syndrome has been described and attributed to mutations in the KCNJ10 gene on chromosome 1q23.2 (Detlef Bockenhauer and colleagues. N Engl J Med 209;360:1960–70; see also editorial, ibid: 2012–4). The syndrome was identified in five children from two consanguineous families of Pakistani and Arabic origins, …
Provenance and peer review Not commissioned; not externally peer reviewed.